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PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.
Currás-Freixes M, Piñeiro-Yañez E, Montero-Conde C, Apellániz-Ruiz M, Calsina B, Mancikova V, Remacha L, Richter S, Ercolino T, Rogowski-Lehmann N, Deutschbein T, Calatayud M, Guadalix S, Álvarez-Escolá C, Lamas C, Aller J, Sastre-Marcos J, Lázaro C, Galofré JC, Patiño-García A, Meoro-Avilés A, Balmaña-Gelpi J, De Miguel-Novoa P, Balbín M, Matías-Guiu X, Letón R, Inglada-Pérez L, Torres-Pérez R, Roldán-Romero JM, Rodríguez-Antona C, Fliedner SMJ, Opocher G, Pacak K, Korpershoek E, de Krijger RR, Vroonen L, Mannelli M, Fassnacht M, Beuschlein F, Eisenhofer G, Cascón A, Al-Shahrour F, Robledo M. Currás-Freixes M, et al. J Mol Diagn. 2017 Jul;19(4):575-588. doi: 10.1016/j.jmoldx.2017.04.009. Epub 2017 May 25. J Mol Diagn. 2017. PMID: 28552549 Free PMC article.
Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
Cascon A, Cebrian A, Pollan M, Ruiz-Llorente S, Montero-Conde C, Leton R, Gutierrez R, Lesueur F, Milne RL, Gonzalez-Albarran O, Lucas-Morante T, Benitez J, Ponder BA, Robledo M. Cascon A, et al. J Clin Endocrinol Metab. 2005 Apr;90(4):2127-30. doi: 10.1210/jc.2004-2059. Epub 2004 Dec 28. J Clin Endocrinol Metab. 2005. PMID: 15623805
Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.
Ruiz-Llorente S, Montero-Conde C, Milne RL, Moya CM, Cebrián A, Letón R, Cascón A, Mercadillo F, Landa I, Borrego S, Pérez de Nanclares G, Alvarez-Escolá C, Díaz-Pérez JA, Carracedo A, Urioste M, González-Neira A, Benítez J, Santisteban P, Dopazo J, Ponder BA, Robledo M; Medullary Thyroid Carcinoma Clinical Group. Ruiz-Llorente S, et al. Cancer Res. 2007 Oct 1;67(19):9561-7. doi: 10.1158/0008-5472.CAN-07-1638. Cancer Res. 2007. PMID: 17909067
Molecular characterisation of a common SDHB deletion in paraganglioma patients.
Cascón A, Landa I, López-Jiménez E, Díez-Hernández A, Buchta M, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Eng C, Neumann HP, Robledo M. Cascón A, et al. J Med Genet. 2008 Apr;45(4):233-8. doi: 10.1136/jmg.2007.054965. Epub 2007 Dec 5. J Med Genet. 2008. PMID: 18057081
SDHC mutation in an elderly patient without familial antecedents.
López-Jiménez E, de Campos JM, Kusak EM, Landa I, Leskelä S, Montero-Conde C, Leandro-García LJ, Vallejo LA, Madrigal B, Rodríguez-Antona C, Robledo M, Cascón A. López-Jiménez E, et al. Clin Endocrinol (Oxf). 2008 Dec;69(6):906-10. doi: 10.1111/j.1365-2265.2008.03368.x. Epub 2008 Aug 4. Clin Endocrinol (Oxf). 2008. PMID: 18681855
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